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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol | Gene ID ▼ | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0221356 | Brachycephaly | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0015302 | External exotoses | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0013336 | Dwarfism | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C4317295 | Congenital disorder of glycosylation type 1s | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0011847 | Diabetes | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0004364 | Autoimmune Diseases | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0027708 | Nephroblastoma | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0029408 | Degenerative polyarthritis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0020676 | Hypothyroidism | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0745103 | Hyperlipoproteinemia Type IIa | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0009806 | Constipation | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0020538 | Hypertensive disease | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0005940 | Bone Diseases | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0036572 | Seizures | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0520947 | Clumsiness - motor delay | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0038273 | Stereotypic Movement Disorder | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0028738 | Nystagmus | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C1319315 | Adenocarcinoma of large intestine | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0410530 | Metachondromatosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0236642 | Pick Disease of the Brain | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0017665 | Membranous glomerulonephritis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0020492 | Hyperostosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0005967 | Bone neoplasms | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0878681 | Dent's disease | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
